A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696504



Internal ID15433156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:149814251..149904863hg38UCSC Ensembl
Innerchr2:150670765..150761377hg19UCSC Ensembl
Innerchr2:150379011..150469623hg18UCSC Ensembl
Innerchr2:150496273..150586885hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3890613
hg1990613
hg1890613
hg1790613
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519036
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696504
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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